Canonical Allele Identifier: CA190667430
Gene:

Linked Data

dbSNP Id: rs941292034
gnomAD v2: 9-21756090-T-C
gnomAD v3: 9-21756091-T-C
gnomAD v4: 9-21756091-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21756091T>C , CM000671.2:g.21756091T>C GRCh38
NC_000009.11:g.21756090T>C , CM000671.1:g.21756090T>C GRCh37
NC_000009.10:g.21746090T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746563.2:n.163+11734A>G